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Here we evaluated two gene editing strategies, Adenine Base Editing (ABE) to correct W1282X, and Homology-Independent Targeted Integration (HITI) of a CFTR superexon comprising exons 23\u201327 (SE23\u201327) to enable expression of a CFTR mRNA without W1282X. In Flp-In-293 cells stably expressing a CFTR expression minigene bearing W1282X, ABE corrected 24% of W1282X alleles, rescued CFTR mRNA from nonsense mediated decay and restored protein expression. However, bystander editing at the adjacent adenine (c.3847A&amp;gt;G), caused an amino acid change (R1283G) that affects CFTR maturation and ablates ion channel activity. In primary human nasal epithelial cells homozygous for W1282X, ABE corrected 27% of alleles, but with a notably lower level of bystander editing, and CFTR channel function was restored to 16% of wild-type levels. Using the HITI approach, correct integration of a SE23\u201327 in intron 22 of the CFTR locus in 16HBEge W1282X cells was detected in 5.8% of alleles, resulting in 7.8% of CFTR transcripts containing the SE23\u201327 sequence. Analysis of a clonal line homozygous for the HITI-SE23\u201327 produced full-length mature protein and restored CFTR anion channel activity to 10% of wild-type levels, which could be increased three-fold upon treatment with the triple combination of CF modulators. Overall, these data demonstrate two different editing strategies can successfully correct W1282X, the second most common class I variant, with a concomitant restoration of CFTR function.<\/jats:p>","DOI":"10.1093\/hmg\/ddad143","type":"journal-article","created":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T05:34:50Z","timestamp":1693460090000},"page":"3237-3248","source":"Crossref","is-referenced-by-count":19,"title":["Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X"],"prefix":"10.1093","volume":"32","author":[{"given":"Karen","family":"Mention","sequence":"first","affiliation":[{"name":"Department of Physiology, University College Cork , College Road, Cork, T12 K8AF , Ireland"},{"name":"School of Microbiology, University College Cork , College Road, Cork, T12 K8AF , Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kader","family":"Cavusoglu-Doran","sequence":"additional","affiliation":[{"name":"Department of Physiology, University College Cork , College Road, Cork, T12 K8AF , Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anya T","family":"Joynt","sequence":"additional","affiliation":[{"name":"McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University , 3400 N. Charles Street, Baltimore, MD 21218 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00facia","family":"Santos","sequence":"additional","affiliation":[{"name":"Department of Physiology, University College Cork , College Road, Cork, T12 K8AF , Ireland"},{"name":"Faculty of Sciences , BioISI - Biosystems & Integrative Sciences Institute, , Campo Grande, C8 bdg, Lisboa 1749-016 , Portugal"},{"name":"University of Lisboa , BioISI - Biosystems & Integrative Sciences Institute, , Campo Grande, C8 bdg, Lisboa 1749-016 , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Sanz","sequence":"additional","affiliation":[{"name":"Department of Physiology, University College Cork , College Road, Cork, T12 K8AF , Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0103-0055","authenticated-orcid":false,"given":"Alice C","family":"Eastman","sequence":"additional","affiliation":[{"name":"McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University , 3400 N. Charles Street, Baltimore, MD 21218 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Merlo","sequence":"additional","affiliation":[{"name":"Division of Pulmonary and Critical Care Medicine , Department of Medicine, , 1800 Orleans St, Baltimore, MD 21287 , United States"},{"name":"Johns Hopkins Hospital , Department of Medicine, , 1800 Orleans St, Baltimore, MD 21287 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elinor","family":"Langfelder-Schwind","sequence":"additional","affiliation":[{"name":"The Cystic Fibrosis Center, Lenox Hill Hospital , 100 E. 77th Street, 4E, New York, NY 10075 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina F","family":"Scallan","sequence":"additional","affiliation":[{"name":"School of Microbiology, University College Cork , College Road, Cork, T12 K8AF , Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos M","family":"Farinha","sequence":"additional","affiliation":[{"name":"Faculty of Sciences , BioISI - Biosystems & Integrative Sciences Institute, , Campo Grande, C8 bdg, Lisboa 1749-016 , Portugal"},{"name":"University of Lisboa , BioISI - Biosystems & Integrative Sciences Institute, , Campo Grande, C8 bdg, Lisboa 1749-016 , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garry R","family":"Cutting","sequence":"additional","affiliation":[{"name":"McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University , 3400 N. 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